Genome-wide association study identifies five new breast cancer susceptibility loci

Clare Turnbull; Shahana Ahmed; Jonathan Morrison; David Pernet; Anthony Renwick; Mel Maranian; Sheila Seal; Maya Ghoussaini; Sarah Hines; Catherine S. Healey; Deborah Hughes; Margaret Warren-Perry; William Tapper; Diana Eccles; D. Gareth Evans; Maartje Hooning; Mieke Schutte; Ans Van Den Ouweland; Richard Houlston; Gillian Ross; Cordelia Langford; Paul D P Pharoah; Michael R. Stratton; Alison M. Dunning; Nazneen Rahman; Douglas F. Easton

doi:10.1038/ng.586

Genome-wide association study identifies five new breast cancer susceptibility loci

Clare Turnbull, Shahana Ahmed, Jonathan Morrison, David Pernet, Anthony Renwick, Mel Maranian, Sheila Seal, Maya Ghoussaini, Sarah Hines, Catherine S. Healey, Deborah Hughes, Margaret Warren-Perry, William Tapper, Diana Eccles, D. Gareth Evans, Maartje Hooning, Mieke Schutte, Ans Van Den Ouweland, Richard Houlston, Gillian RossCordelia Langford, Paul D P Pharoah, Michael R. Stratton, Alison M. Dunning, Nazneen Rahman, Douglas F. Easton

Research output: Contribution to journal › Article › peer-review

Abstract

Breast cancer is the most common cancer in women in developed countries. To identify common breast cancer susceptibility alleles, we conducted a genome-wide association study in which 582,886 SNPs were genotyped in 3,659 cases with a family history of the disease and 4,897 controls. Promising associations were evaluated in a second stage, comprising 12,576 cases and 12,223 controls. We identified five new susceptibility loci, on chromosomes 9, 10 and 11 (P = 4.6 × 10-7 to P = 3.2 × 10-15). We also identified SNPs in the 6q25.1 (rs3757318, P = 2.9 × 10 -6), 8q24 (rs1562430, P = 5.8 × 10-7) and LSP1 (rs909116, P = 7.3 × 10-7) regions that showed more significant association with risk than those reported previously. Previously identified breast cancer susceptibility loci were also found to show larger effect sizes in this study of familial breast cancer cases than in previous population-based studies, consistent with polygenic susceptibility to the disease. © 2010 Nature America, Inc. All rights reserved.

Original language	English
Pages (from-to)	504-507
Number of pages	3
Journal	Nature Genetics
Volume	42
Issue number	6
DOIs	https://doi.org/10.1038/ng.586
Publication status	Published - Jun 2010

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Turnbull, C., Ahmed, S., Morrison, J., Pernet, D., Renwick, A., Maranian, M., Seal, S., Ghoussaini, M., Hines, S., Healey, C. S., Hughes, D., Warren-Perry, M., Tapper, W., Eccles, D., Evans, D. G., Hooning, M., Schutte, M., Van Den Ouweland, A., Houlston, R., ... Easton, D. F. (2010). Genome-wide association study identifies five new breast cancer susceptibility loci. Nature Genetics, 42(6), 504-507. https://doi.org/10.1038/ng.586

@article{045c2f8dac7c4927b6bfe7bf8f973a48,

title = "Genome-wide association study identifies five new breast cancer susceptibility loci",

abstract = "Breast cancer is the most common cancer in women in developed countries. To identify common breast cancer susceptibility alleles, we conducted a genome-wide association study in which 582,886 SNPs were genotyped in 3,659 cases with a family history of the disease and 4,897 controls. Promising associations were evaluated in a second stage, comprising 12,576 cases and 12,223 controls. We identified five new susceptibility loci, on chromosomes 9, 10 and 11 (P = 4.6 × 10-7 to P = 3.2 × 10-15). We also identified SNPs in the 6q25.1 (rs3757318, P = 2.9 × 10 -6), 8q24 (rs1562430, P = 5.8 × 10-7) and LSP1 (rs909116, P = 7.3 × 10-7) regions that showed more significant association with risk than those reported previously. Previously identified breast cancer susceptibility loci were also found to show larger effect sizes in this study of familial breast cancer cases than in previous population-based studies, consistent with polygenic susceptibility to the disease. {\textcopyright} 2010 Nature America, Inc. All rights reserved.",

author = "Clare Turnbull and Shahana Ahmed and Jonathan Morrison and David Pernet and Anthony Renwick and Mel Maranian and Sheila Seal and Maya Ghoussaini and Sarah Hines and Healey, {Catherine S.} and Deborah Hughes and Margaret Warren-Perry and William Tapper and Diana Eccles and Evans, {D. Gareth} and Maartje Hooning and Mieke Schutte and {Van Den Ouweland}, Ans and Richard Houlston and Gillian Ross and Cordelia Langford and Pharoah, {Paul D P} and Stratton, {Michael R.} and Dunning, {Alison M.} and Nazneen Rahman and Easton, {Douglas F.}",

year = "2010",

month = jun,

doi = "10.1038/ng.586",

language = "English",

volume = "42",

pages = "504--507",

journal = "Nature Genetics",

issn = "1061-4036",

publisher = "Springer Nature",

number = "6",

}

Turnbull, C, Ahmed, S, Morrison, J, Pernet, D, Renwick, A, Maranian, M, Seal, S, Ghoussaini, M, Hines, S, Healey, CS, Hughes, D, Warren-Perry, M, Tapper, W, Eccles, D, Evans, DG, Hooning, M, Schutte, M, Van Den Ouweland, A, Houlston, R, Ross, G, Langford, C, Pharoah, PDP, Stratton, MR, Dunning, AM, Rahman, N & Easton, DF 2010, 'Genome-wide association study identifies five new breast cancer susceptibility loci', Nature Genetics, vol. 42, no. 6, pp. 504-507. https://doi.org/10.1038/ng.586

TY - JOUR

T1 - Genome-wide association study identifies five new breast cancer susceptibility loci

AU - Turnbull, Clare

AU - Ahmed, Shahana

AU - Morrison, Jonathan

AU - Pernet, David

AU - Renwick, Anthony

AU - Maranian, Mel

AU - Seal, Sheila

AU - Ghoussaini, Maya

AU - Hines, Sarah

AU - Healey, Catherine S.

AU - Hughes, Deborah

AU - Warren-Perry, Margaret

AU - Tapper, William

AU - Eccles, Diana

AU - Evans, D. Gareth

AU - Hooning, Maartje

AU - Schutte, Mieke

AU - Van Den Ouweland, Ans

AU - Houlston, Richard

AU - Ross, Gillian

AU - Langford, Cordelia

AU - Pharoah, Paul D P

AU - Stratton, Michael R.

AU - Dunning, Alison M.

AU - Rahman, Nazneen

AU - Easton, Douglas F.

PY - 2010/6

Y1 - 2010/6

N2 - Breast cancer is the most common cancer in women in developed countries. To identify common breast cancer susceptibility alleles, we conducted a genome-wide association study in which 582,886 SNPs were genotyped in 3,659 cases with a family history of the disease and 4,897 controls. Promising associations were evaluated in a second stage, comprising 12,576 cases and 12,223 controls. We identified five new susceptibility loci, on chromosomes 9, 10 and 11 (P = 4.6 × 10-7 to P = 3.2 × 10-15). We also identified SNPs in the 6q25.1 (rs3757318, P = 2.9 × 10 -6), 8q24 (rs1562430, P = 5.8 × 10-7) and LSP1 (rs909116, P = 7.3 × 10-7) regions that showed more significant association with risk than those reported previously. Previously identified breast cancer susceptibility loci were also found to show larger effect sizes in this study of familial breast cancer cases than in previous population-based studies, consistent with polygenic susceptibility to the disease. © 2010 Nature America, Inc. All rights reserved.

AB - Breast cancer is the most common cancer in women in developed countries. To identify common breast cancer susceptibility alleles, we conducted a genome-wide association study in which 582,886 SNPs were genotyped in 3,659 cases with a family history of the disease and 4,897 controls. Promising associations were evaluated in a second stage, comprising 12,576 cases and 12,223 controls. We identified five new susceptibility loci, on chromosomes 9, 10 and 11 (P = 4.6 × 10-7 to P = 3.2 × 10-15). We also identified SNPs in the 6q25.1 (rs3757318, P = 2.9 × 10 -6), 8q24 (rs1562430, P = 5.8 × 10-7) and LSP1 (rs909116, P = 7.3 × 10-7) regions that showed more significant association with risk than those reported previously. Previously identified breast cancer susceptibility loci were also found to show larger effect sizes in this study of familial breast cancer cases than in previous population-based studies, consistent with polygenic susceptibility to the disease. © 2010 Nature America, Inc. All rights reserved.

U2 - 10.1038/ng.586

DO - 10.1038/ng.586

M3 - Article

SN - 1061-4036

VL - 42

SP - 504

EP - 507

JO - Nature Genetics

JF - Nature Genetics

IS - 6

ER -

Genome-wide association study identifies five new breast cancer susceptibility loci

Abstract

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